Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Agnieszka, Ługowska"'
Autor:
Paulina Felczak, Aleksandra Kuźniar-Pałka, Agnieszka Ługowska, Elżbieta Stawicka, Sylwia Tarka, Hanna Mierzewska
Publikováno v:
Folia Neuropathologica, Vol 62, Iss 1, Pp 21-31 (2024)
Neuronal ceroid lipofuscinoses (NCLs) are a growing group of neurodegenerative storage diseases, in which specific features are sought to facilitate the creation of a universal diagnostic algorithm in the future. In our ultrastructural studies, the g
Externí odkaz:
https://doaj.org/article/b1cb71518ad14537a504a796940c0415
Autor:
Agnieszka Ługowska
Publikováno v:
Cells, Vol 13, Iss 19, p 1664 (2024)
Lysosomal storage diseases (LSDs) are caused by the deficient activity of a lysosomal hydrolase or the lack of a functional membrane protein, transporter, activator, or other protein. Lysosomal enzymes break down macromolecular compounds, which contr
Externí odkaz:
https://doaj.org/article/e003d10616f24054b706851fbba4868f
Autor:
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska
Publikováno v:
Diagnostics, Vol 14, Iss 17, p 1956 (2024)
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS). There is a scarcity of literature concerning the process of growth in children with Mucopolys
Externí odkaz:
https://doaj.org/article/c3be6138faa04bbda6f81883f78fec11
Autor:
Paulina Szymańska-Rożek, Barbara Czartoryska, Grazina Kleinotiene, Patryk Lipiński, Anna Tylki-Szymańska, Agnieszka Ługowska
Publikováno v:
Biomolecules, Vol 13, Iss 3, p 436 (2023)
Chitotriosidase is an enzyme produced and secreted in large amounts by activated macrophages, especially macrophages loaded with phagocytozed glycosphingolipid in Gaucher disease. Macrophages phagocytose decayed blood cells that contain a lot of sphi
Externí odkaz:
https://doaj.org/article/79e52e996b27402fb90ce9e55d422233
Autor:
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Ni
Externí odkaz:
https://doaj.org/article/010a2bdb5beb49bab4ae1f996dd3e4a7
Autor:
Agnieszka Ługowska, Joanna K. Purzycka-Olewiecka, Rafał Płoski, Grażyna Truszkowska, Maciej Pronicki, Paulina Felczak, Mateusz Śpiewak, Aleksandra Podlecka-Piętowska, Martyna Sitek, Zofia T. Bilińska, Przemysław Leszek, Małgorzata Bednarska-Makaruk
Publikováno v:
Life, Vol 12, Iss 1, p 3 (2021)
We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of a
Externí odkaz:
https://doaj.org/article/d76e2f46eaf448258d98081a03af4459
Autor:
Agnieszka Ługowska, Galina Baydakova, Alex Ilyushkina, Ekaterina Zakharova, Hanna Mierzewska, Krystyna Szymańska, Jolanta Wierzba, Jolanta Kubalska, Ałła Graban, Tomasz Kmieć, Barbara Perkowska-Sumiła, Anna Tylki-Szymańska, Małgorzata Bednarska-Makaruk
Publikováno v:
Diagnostics, Vol 11, Iss 2, p 320 (2021)
Increased activity of dipeptidyl peptidase IV (DPP-IV) was reported earlier in patients with different types of mucopolysaccharidoses. DPP-IV (also known as CD26 lymphocyte T surface antigen) is a transmembrane protein showing protease activity. This
Externí odkaz:
https://doaj.org/article/e50ce5218c0644baaf48e583eb8bd269
Autor:
Galina Baydakova, Alex Ilyushkina, Lidia Gaffke, Karolina Pierzynowska, Igor Bychkov, Agnieszka Ługowska, Grzegorz Wegrzyn, Anna Tylki-Szymanska, Ekaterina Zakharova
Publikováno v:
Diagnostics, Vol 10, Iss 3, p 155 (2020)
Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of t
Externí odkaz:
https://doaj.org/article/dd260c097ae444bdbf27e111617b87c8
Publikováno v:
Metabolic Brain Disease
Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. It is an autosomal re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64f08a230a9ab3088b22b230a718706
https://doi.org/10.1007/s11011-021-00842-0
https://doi.org/10.1007/s11011-021-00842-0
Autor:
Agnieszka Ługowska, Joanna K. Purzycka-Olewiecka, Rafał Płoski, Grażyna Truszkowska, Maciej Pronicki, Paulina Felczak, Mateusz Śpiewak, Aleksandra Podlecka-Piętowska, Martyna Sitek, Zofia T. Bilińska, Przemysław Leszek, Małgorzata Bednarska-Makaruk
Publikováno v:
Life, Vol 12, Iss 3, p 3 (2022)
Life
Life
We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age). Brain MRI (28 years of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f559ff311c0404d677336d8be4bc0c
https://www.mdpi.com/2075-1729/12/1/3
https://www.mdpi.com/2075-1729/12/1/3